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1 n the PGRN gene present with neuronal ceroid lipofuscinosis.
2 storage disorder, infantile neuronal ceroid lipofuscinosis.
3 enerative disorder infantile neuronal ceroid lipofuscinosis.
4 valent in Finland, infantile neuronal ceroid lipofuscinosis.
5 platelet storage-pool deficiency, and ceroid lipofuscinosis.
6 s of patients with infantile neuronal ceroid lipofuscinosis.
7 enerative disorder infantile neuronal ceroid lipofuscinosis.
8 nerative disorder, infantile neuronal ceroid lipofuscinosis.
9 beneficial for patients with neuronal ceroid lipofuscinosis.
10 erative disorder adult-onset neuronal ceroid lipofuscinosis.
11 treatment of late infantile neuronal ceroid lipofuscinosis.
12 Pick type A/B, and infantile neuronal ceroid lipofuscinosis.
13 e genetic models of juvenile neuronal ceroid lipofuscinosis.
14 h the classic late infantile neuronal ceroid lipofuscinosis.
15 an disorder called infantile neuronal ceroid lipofuscinosis.
17 e (or classic late infantile neuronal ceroid lipofuscinosis), a paediatric neurodegenerative disease
18 enerative disorder infantile neuronal ceroid lipofuscinosis, a disease characterized by accumulation
20 ad to classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage di
21 lly associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with ea
23 nerative disorder, infantile neuronal ceroid lipofuscinosis (also known as infantile Batten disease).
25 tosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is caused by mutation of the DNAJC
26 atten disease, also known as juvenile ceroid-lipofuscinosis and CLN3, is an autosomal recessively inh
27 a mouse model for infantile neuronal ceroid lipofuscinosis and further suggest that PPT2 serves a ro
28 ge diseases Niemann-Pick and neuronal ceroid lipofuscinosis and have been reported to regulate choles
30 in-43-positive lesions were observed, robust lipofuscinosis and ubiquitination in GRN(-/-) mice is st
32 nerative disorder, infantile neuronal ceroid lipofuscinosis, and lipid thioesters derived from acylat
33 tion of new animal models of neuronal ceroid lipofuscinosis, and the impact of novel methodology to r
35 pathological features of the neuronal ceroid lipofuscinosises: autofluorescent inclusions and lysosom
36 the first signs of juvenile neuronal ceroid lipofuscinosis caused by CLN3 mutations, followed by ine
42 sh variant of late infantile neuronal ceroid lipofuscinosis (CLN5 disease) belongs to a family of neu
43 duced classic late infantile neuronal ceroid lipofuscinosis disease-associated mutation, G77R, signif
44 ative disease late infantile neuronal ceroid lipofuscinosis encodes a lysosomal protease with tripept
45 ase-associated gene ATP13A2, neuronal ceroid lipofuscinosis gene TPP1 and the hereditary motor and se
46 or six of the eight forms of neuronal ceroid lipofuscinosis have now been discovered, and concerted e
58 he PPT1 gene cause infantile neuronal ceroid lipofuscinosis (INCL), a devastating neurodegenerative s
61 T in patients with infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodegenerative disord
62 e (PPT) gene cause infantile neuronal ceroid lipofuscinosis (INCL), the clinical manifestations of wh
68 Classical late-infantile neuronal ceroid lipofuscinosis is a fatal neurodegenerative disease caus
71 al enzyme and that infantile neuronal ceroid lipofuscinosis is properly classified as a lysosomal sto
72 (formerly known as juvenile neuronal ceroid lipofuscinosis) is a fatal childhood neurodegenerative d
75 agy specifically in juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease), a neurodegenera
76 the CLN3 gene cause juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease), an early onset
83 Batten disease, or juvenile neuronal ceroid lipofuscinosis (JNCL), results from mutations in the CLN
86 tten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive conditi
87 agy is disrupted in juvenile neuronal ceroid lipofuscinosis, likely at the level of autophagic vacuol
88 Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal neurodegenerative dise
90 The late-infantile form of neuronal ceroid lipofuscinosis (LINCL) is a progressive and ultimately f
91 in classical late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal childhood neurodegenerat
93 The classical late infantile neuronal ceroid lipofuscinosis (LINCLs) is an autosomal recessive diseas
95 ave shown that patients with neuronal ceroid lipofuscinosis (NCL) develop neurodegeneration character
100 generative diseases known as neuronal ceroid lipofuscinosis (NCL) or Batten disease has been identifi
101 escribe the ninth variant of neuronal ceroid lipofuscinosis (NCL) or Batten disease, due to defects i
103 he neurodegenerative disease neuronal ceroid lipofuscinosis (NCL), accumulated throughout the CNS but
111 lly occurring ovine model of neuronal ceroid lipofuscinosis (NCL, Batten disease) caused by a mutatio
114 ative disorder caused by mutations in ceroid lipofuscinosis neuronal-3 (CLN3), a hydrophobic transmem
115 age diseases, including NPC2, Batten (ceroid lipofuscinosis, neuronal 2, CLN2), Fabry, Farber, Nieman
117 ten children with infantile neuronal ceroid lipofuscinosis; one child was lost to follow-up after th
119 y of patients with infantile neuronal ceroid lipofuscinosis provides a guide for future assessment of
121 is associated with a form of neuronal ceroid lipofuscinosis, suggesting that PPT1 and -2 perform non-
122 erent neurological disorder, neuronal ceroid lipofuscinosis, suggesting that the total absence of pro
125 auses variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited neurode
126 l for variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a severe and devastating multis
127 for this form of adult onset neuronal ceroid lipofuscinosis was designated neuronal ceroid lipofuscin
128 cause the infantile form of neuronal ceroid lipofuscinosis, which is a lysosomal storage disorder ch
129 be responsible for infantile neuronal ceroid lipofuscinosis, which is a severe brain disorder charact
130 g 32 unrelated families with neuronal ceroid lipofuscinosis who had GROD documented morphologically.
131 years of age with infantile neuronal ceroid lipofuscinosis with any two of the seven most lethal PPT
133 ce causes an unusual form of neuronal ceroid lipofuscinosis with striking visceral manifestations.
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